Variant report

Variant	rs807532
Chromosome Location	chr6:24549668-24549669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2247845	0.80[AMR][1000 genomes]
rs2744593	0.82[AMR][1000 genomes]
rs2744594	0.91[CHB][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes]
rs2744597	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2817232	0.82[AMR][1000 genomes]
rs2817233	0.80[AMR][1000 genomes]
rs807510	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs807518	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[AMR][1000 genomes]
rs807519	0.95[CHB][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes]
rs807527	0.91[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs807529	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs807531	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs807538	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs807540	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs807542	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs807543	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9393563	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34020	chr6:24481299-24606036	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs807532	HIST1H4C	cis	parietal	SCAN
rs807532	ALDH5A1	cis	multi-tissue	Pritchard
rs807532	ZNF165	cis	cerebellum	SCAN
rs807532	HSS00330832	cis	multi-tissue	Pritchard
rs807532	HIST1H4E	cis	parietal	SCAN
rs807532	FAM65B	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24496200-24583000	Weak transcription	Hela-S3	cervix
2	chr6:24535200-24566600	Weak transcription	Brain Germinal Matrix	brain
3	chr6:24535200-24591200	Weak transcription	Fetal Brain Male	brain
4	chr6:24535400-24550000	Weak transcription	Gastric	stomach
5	chr6:24535600-24560600	Weak transcription	Brain Anterior Caudate	brain
6	chr6:24535600-24560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:24535600-24563200	Weak transcription	Brain Angular Gyrus	brain
8	chr6:24535600-24583400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:24539200-24583200	Weak transcription	Fetal Intestine Small	intestine
10	chr6:24540200-24556200	Weak transcription	Fetal Brain Female	brain
11	chr6:24548400-24583400	Weak transcription	A549	lung
12	chr6:24549600-24551200	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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